Patient Care

The Division of Genetics provides a wide range of Clinical Genetics services to the greater San Diego community, including Pediatric Genetics, Biochemical Genetics, Cancer Genetics, and Reproductive Medicine care.

RCHSD and the UC San Diego (UCSD) Medical Center have a long established tradition of excellence in Biochemical Genetics. Drs. Barshop, Levine, Feigenbaum, and Nyhan are the principal providers of biochemical genetics services in San Diego. At RCHSD, they admit patients, consult on inpatients, and participate in two weekly Metabolic Clinics, evaluating more than 700 patients annually.

At the UCSD Medical Center, they serve in an Adult Neuro-Metabolic Clinic and in the Clinical Translational Research Institute. Drs. Barshop, Levine, Feigenbaum, and Nyhan also provide consultation services for several other hospitals and pediatric practices throughout the region and abroad.

The Biochemical Genetics Laboratory serves as an important regional and international resource for several clinical and research tests. The laboratory is a licensed clinical laboratory and is certified by the College of American Pathologists. Drs. Barshop and Nyhan review and interpret results, and they provide consultation services for referring physicians. The laboratory processes more than 4,000 clinical samples and 1,000 research samples annually.

The Cystine Determination Laboratory is a part of the Biochemical Genetics Laboratory, which is directed by Dr. Barshop. Intracellular cystine concentrations are analyzed by tandem mass spectrometry. The testing (about 500 leukocyte cystine assays per year) permits the diagnosis of 10 to 15 new cases of cystinosis each year, and the assays are used to direct therapy.

The Division is involved with the California Newborn Screening Program, which includes an expanded number of conditions, since the introduction of tandem mass spectrometry in 2005. Dr. Barshop is Chief Medical Advisor of the Area Service Center, which coordinates all newborn screening for approximately 120,000 births each year in the four ​southernmost counties, including the Metabolic Center at RCHSD.

Drs. Lynne Bird and Marilyn Jones provide primary evaluation and follow-up for children with birth defects, developmental disorders, and health-related conditions in which a genetic diagnosis is suspected. Dr. Jones is Director of UCSD’s Prenatal Diagnosis Center and an active participant in the Fetal Diagnosis Center operated by the Department of Reproductive Medicine at UCSD. Both Drs. Bird and Jones provide consultations on the various inpatient services at RCHSD, Sharp Mary Birch Hospital for Women, and Scripps system hospitals. They also counsel prenatal patients at the UCSD Fetal Diagnosis Center.

Dr. Bird evaluates roughly 800 new and follow-up patients annually. Dr. Bird sees patients in four half-day Dysmorphology and Genetics clinics, directs the monthly Prader-Willi syndrome clinic, and supervises two genetic counselors at RCHSD. Dr. Bird is Medical Director of the newly formed Down Syndrome Center, which offers multidisciplinary evaluation and management of children with Down syndrome. Dr. Jones evaluates up to 1,200 new and follow-up patients annually. She sees patients at RCHSD in five half-day Dysmorphology and Genetics clinics, monthly Craniofacial clinics, and monthly Cleft Palate clinics. In addition, Dr. Jones has a monthly half-day clinic at the San Diego Regional Center for the Developmentally Disabled, a monthly half-day clinic at the Hospital de las Californias in Tijuana, and biannual full-day clinic at the El Centro Regional Center for the Developmentally Disabled.

Dr. Willis staffs the Genetics Clinic at the Balboa Naval Hospital and participates in their multi-specialty Craniofacial Clinic. In addition, she participates in Metabolic Clinic at RCHSD twice monthly. Dr. Nunes is the Chief of Genetics for the Kaiser-Permanente Healthcare system in San Diego County and sees patients in Cardiogenetics and Adult multi-specialty clinics. Both Dr. Willis and Dr. Nunes participate in the education of medical students, residents, and fellows, and host Clinical Genetics fellows who rotate through their respective services.